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geleophysic dysplasia 1
Summary
- Synonym
-
- GPHYSD1
- Definition
- A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2.
- Super Class
- autosomal recessive disease geleophysic dysplasia
External Links
- Disease Ontology
- DOID:0111725
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
